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476 Severe Autoimmunity with Polyarticular Joint Disease Requiring Anti-TNF Therapy and T+B-NK+ Immunodeficiency in a Family with Small Stature and Intermediate Radiation Sensitivity
BACKGROUND: We have identified a family in which 3 of 4 children are affected with significant autoimmunity and immunodeficiency that does not fit any of the known disorders. We have embarked to characterize their defect and describe a completely new disorder. METHODS: Whole Exome Sequencing, T and...
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| 主要な著者: | , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
World Allergy Organization Journal
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3512906/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/01.WOX.0000411591.80033.16 |
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